Characterization and Imprinting Status of OBPH1/Obph1 Gene: Implications for an Extended Imprinting Domain in Human and Mouse

• Published in: Genomics (San Diego, Calif.) Vol. 80; no. 6; pp. 575 - 584
• Main Authors: Higashimoto, Ken, Soejima, Hidenobu, Yatsuki, Hitomi, Joh, Keiichiro, Uchiyama, Michiko, Obata, Yayoi, Ono, Ryuichi, Wang, Youdong, Xin, Zhenghan, Zhu, Xike, Masuko, Sadahiko, Ishino, Fumitoshi, Hatada, Izuho, Jinno, Yoshihiro, Iwasaka, Tsuyoshi, Katsuki, Takeshi, Mukai, Tsunehiro
• Format: Journal Article
• Language: English
• Published: San Diego, CA Elsevier Inc 01.12.2002; Elsevier
• Subjects: Alleles; Amino Acid Sequence; Animals; Base Sequence; Biological and medical sciences; Chromosome Mapping; Chromosomes, Human, Pair 11 - genetics; Classical genetics, quantitative genetics, hybrids; CpG island; CpG Islands - genetics; DNA - chemistry; DNA - genetics; DNA - metabolism; DNA Methylation; Female; Fundamental and applied biological sciences. Psychology; Gene Expression; Genes. Genome; Genetics of eukaryotes. Biological and molecular evolution; Genomic Imprinting; Human; human chromosome 11p15.5; Humans; imprinting domain; Mice; Mice, Inbred C57BL; Molecular and cellular biology; Molecular genetics; Molecular Sequence Data; mouse chromosome 7F4/F5; OBPH1/Obph1; Polymorphism, Single Nucleotide; Receptors, Steroid - genetics; Sequence Analysis, DNA; Sequence Homology, Amino Acid; Synteny; Vertebrata; imprinting domain; mouse chromosome 7F4/F5; DNA methylation; genomic imprinting; human chromosome 11p15.5; OBPH1/Obph1; CpG island; Human; Rodentia; Chromosome 7; Chromosome C11; Genomic imprinting; Characterization; Vertebrata; Mammalia; Gene; Mouse; DNA; Methylation
• ISSN: 0888-7543; 1089-8646
• DOI: 10.1006/geno.2002.7006

Human 11p15.5, as well as its orthologous mouse 7F4/F5, is known as the imprinting domain extending from IPL/Ipl to H19. OBPH1 and Obph1 are located beyond the presumed imprinting boundary on the IPL/Ipl side. We determined full-length cDNAs and complete genomic structures of both orthologues. We also investigated their precise imprinting and methylation status. The orthologues resembled each other in genomic structure and in the position of the 5′ CpG island and were expressed ubiquitously. OBPH1 and Obph1 were predominantly expressed from the maternal allele only in placenta, with hypo- and not differentially methylated 5′ CpG islands in both species. These results suggested that the imprinting domain would extend beyond the presumed imprinting boundary and that methylation of the 5′ CpG island was not associated with the imprinting status in either species. It remains to be elucidated whether the gene is under the control of the KIP2/LIT1 subdomain or is regulated by a specific mechanism. Analysis of the precise genomic sequence around the region should help resolve this question.